A 9-mo-old infant was admitted with infantile spasms that improved on administration of topiramate and steroids. He also had developmental delay, esotropia, and hypsarrhythmia on interictal electroencephalogram (EEG), and normal brain magnetic resonance imaging (MRI). West syndrome is the triad of infantile spasms, interictal hypsarrhythmia, and mental retardation. Rapid trio whole-genome seque...

OBJECTIVE To determine whether Helicobacter pylori is associated with infantile colic. DESIGN Case-control study. SETTINGS Local tertiary hospital in rural Gizan, Saudi Arabia. PARTICIPANTS A total of 55 patients with infantile colic who were 2 weeks to 4 months of age and who fulfilled modified Wessel criteria (ie, crying and fussy behavior) and a total of 30 healthy controls with no his...

Desmoplastic infantile gangliogliomas (DIG) are uncommon supratentorial brain tumors with a usually good prognosis despite an aggressive radiological appearance that typically occurs in infants below the age of 24 months. DIGs are exclusively supratentorial, generally have a voluminous size, and are partially cystic. Total surgical removal is sufficient for the treatment of these tumors, and no...

21 new cases of infantile spasms were reported in 1976 from paediatric departments in Denmark. The connection between infantile spasms and the Lennox-Gastaut syndrome is mentioned, because of reports of a significantly higher incidence of HLA-B7 in children with Lennox-Gastaut syndrome. The HLA antigen distribution in 19 of the 21 children was compared with that of 1967 healthy adults. No diffe...

BACKGROUND Krabbe disease is a rare neurodegenerative genetic disorder caused by deficiency of galactocerebrosidase. Patients with the infantile form of Krabbe disease can be treated at a presymptomatic stage with human stem cell transplantation which improves survival and clinical outcomes. However, without a family history, most cases of infantile Krabbe disease present after onset of symptom...